Linked Data
dbSNP Id:
rs4715166
gnomAD v2:
6-13216058-A-G
gnomAD v3:
6-13215826-A-G
gnomAD v4:
6-13215826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13215826A>G , CM000668.2:g.13215826A>G | GRCh38 |
| NC_000006.11:g.13216058A>G , CM000668.1:g.13216058A>G | GRCh37 |
| NC_000006.10:g.13324037A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675203.2:c.1196+9690A>G | ENSP00000502172.2:n.1196+9690A>G | |
| ENST00000687600.1:c.917+9690A>G | ENSP00000509410.1:n.917+9690A>G | |
| ENST00000689548.1:c.848+9690A>G | ENSP00000509837.1:n.848+9690A>G | |
| ENST00000692502.1:n.883+9690A>G | ||
| ENST00000692995.1:c.710+9690A>G | ENSP00000509690.1:n.710+9690A>G | |
| ENST00000693693.1:n.1852+9690A>G | ||
| ENST00000332995.12:c.986+9690A>G MANE Select | ENSP00000329880.8:n.986+9690A>G | |
| ENST00000482982.2:c.710+9690A>G | ENSP00000501726.1:n.710+9690A>G | |
| ENST00000674595.1:c.986+9690A>G | ENSP00000502157.1:n.986+9690A>G | |
| ENST00000674637.1:c.986+9690A>G | ENSP00000501634.1:n.986+9690A>G | |
| ENST00000674953.1:n.567+9690A>G | ||
| ENST00000675203.1:c.1070+9690A>G | ENSP00000502172.1:n.1070+9690A>G | |
| ENST00000676159.1:c.986+9690A>G | ENSP00000501921.1:n.986+9690A>G | |
| ENST00000676234.1:c.710+9690A>G | ENSP00000502037.1:n.710+9690A>G | |
| ENST00000332995.11:c.986+9690A>G | ENSP00000329880.8:n.986+9690A>G | |
| ENST00000379350.5:c.986+9690A>G | ENSP00000368655.1:n.986+9690A>G | |
| ENST00000415087.5:c.710+9690A>G | ENSP00000395948.2:n.710+9690A>G | |
| ENST00000434977.1:c.530-14348A>G | ENSP00000412573.1:n.530-14348A>G | |
| NM_001242648.1:c.986+9690A>G | NP_001229577.1:n.986+9690A>G | |
| NM_030948.2:c.986+9690A>G | NP_112210.1:n.986+9690A>G | |
| XM_005248933.1:c.1193+9690A>G | XP_005248990.1:n.1193+9690A>G | |
| XM_005248934.1:c.1193+9690A>G | XP_005248991.1:n.1193+9690A>G | |
| XM_005248935.3:c.1193+9690A>G | XP_005248992.1:n.1193+9690A>G | |
| XM_005248936.3:c.917+9690A>G | XP_005248993.1:n.917+9690A>G | |
| XM_005248937.2:c.710+9690A>G | XP_005248994.1:n.710+9690A>G | |
| XM_006715021.2:c.1196+9690A>G | XP_006715084.1:n.1196+9690A>G | |
| XM_011514390.1:c.1193+9690A>G | XP_011512692.1:n.1193+9690A>G | |
| XM_011514391.1:c.983+9690A>G | XP_011512693.1:n.983+9690A>G | |
| XM_011514392.1:c.917+9690A>G | XP_011512694.1:n.917+9690A>G | |
| NM_001242648.2:c.986+9690A>G | NP_001229577.1:n.986+9690A>G | |
| NM_001322308.1:c.986+9690A>G | NP_001309237.1:n.986+9690A>G | |
| NM_001322309.1:c.986+9690A>G | NP_001309238.1:n.986+9690A>G | |
| NM_001322310.1:c.1193+9690A>G | NP_001309239.1:n.1193+9690A>G | |
| NM_001322311.1:c.710+9690A>G | NP_001309240.1:n.710+9690A>G | |
| NM_001322312.1:c.710+9690A>G | NP_001309241.1:n.710+9690A>G | |
| NM_001322313.1:c.917+9690A>G | NP_001309242.1:n.917+9690A>G | |
| NM_001322314.1:c.1196+9690A>G | NP_001309243.1:n.1196+9690A>G | |
| NM_030948.3:c.986+9690A>G | NP_112210.1:n.986+9690A>G | |
| XM_005248934.3:c.1193+9690A>G | XP_005248991.1:n.1193+9690A>G | |
| XM_017010452.2:c.1196+9690A>G | XP_016865941.1:n.1196+9690A>G | |
| XM_017010454.2:c.1193+9690A>G | XP_016865943.1:n.1193+9690A>G | |
| XM_017010455.2:c.1193+9690A>G | XP_016865944.1:n.1193+9690A>G | |
| XM_017010456.2:c.1193+9690A>G | XP_016865945.1:n.1193+9690A>G | |
| XM_017010457.2:c.1193+9690A>G | XP_016865946.1:n.1193+9690A>G | |
| XM_017010458.2:c.989+9690A>G | XP_016865947.1:n.989+9690A>G | |
| XM_017010459.2:c.986+9690A>G | XP_016865948.1:n.986+9690A>G | |
| XM_017010460.2:c.986+9690A>G | XP_016865949.1:n.986+9690A>G | |
| XM_017010461.2:c.986+9690A>G | XP_016865950.1:n.986+9690A>G | |
| XM_017010462.2:c.986+9690A>G | XP_016865951.1:n.986+9690A>G | |
| XM_017010464.2:c.989+9690A>G | XP_016865953.1:n.989+9690A>G | |
| XM_017010465.2:c.917+9690A>G | XP_016865954.1:n.917+9690A>G | |
| XM_017010466.2:c.917+9690A>G | XP_016865955.1:n.917+9690A>G | |
| XM_017010467.2:c.710+9690A>G | XP_016865956.1:n.710+9690A>G | |
| XM_017010469.2:c.710+9690A>G | XP_016865958.1:n.710+9690A>G | |
| NM_001242648.3:c.986+9690A>G | NP_001229577.1:n.986+9690A>G | |
| NM_001322308.2:c.986+9690A>G | NP_001309237.1:n.986+9690A>G | |
| NM_001322309.2:c.986+9690A>G | NP_001309238.1:n.986+9690A>G | |
| NM_001322312.2:c.710+9690A>G | NP_001309241.1:n.710+9690A>G | |
| NM_001322314.3:c.1196+9690A>G | NP_001309243.1:n.1196+9690A>G | |
| NM_001374581.1:c.986+9690A>G | NP_001361510.1:n.986+9690A>G | |
| NM_001374582.1:c.1193+9690A>G | NP_001361511.1:n.1193+9690A>G | |
| NM_001374583.1:c.710+9690A>G | NP_001361512.1:n.710+9690A>G | |
| NM_030948.5:c.986+9690A>G | NP_112210.1:n.986+9690A>G | |
| NM_001242648.4:c.986+9690A>G | NP_001229577.1:n.986+9690A>G | |
| NM_001322308.3:c.986+9690A>G | NP_001309237.1:n.986+9690A>G | |
| NM_001322309.3:c.986+9690A>G | NP_001309238.1:n.986+9690A>G | |
| NM_001322310.2:c.1193+9690A>G | NP_001309239.1:n.1193+9690A>G | |
| NM_001322311.2:c.710+9690A>G | NP_001309240.1:n.710+9690A>G | |
| NM_001322312.3:c.710+9690A>G | NP_001309241.1:n.710+9690A>G | |
| NM_001322313.2:c.917+9690A>G | NP_001309242.1:n.917+9690A>G | |
| NM_001322314.4:c.1196+9690A>G | NP_001309243.1:n.1196+9690A>G | |
| NM_001374581.2:c.986+9690A>G | NP_001361510.1:n.986+9690A>G | |
| NM_001374583.2:c.710+9690A>G | NP_001361512.1:n.710+9690A>G | |
| NM_030948.6:c.986+9690A>G MANE Select | NP_112210.1:n.986+9690A>G |