Linked Data
dbSNP Id:
rs12526453
gnomAD v2:
6-12927544-C-G
gnomAD v3:
6-12927312-C-G
gnomAD v4:
6-12927312-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12927312C>G , CM000668.2:g.12927312C>G | GRCh38 |
| NC_000006.11:g.12927544C>G , CM000668.1:g.12927544C>G | GRCh37 |
| NC_000006.10:g.13035530C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689548.1:c.113-126053C>G | ENSP00000509837.1:n.113-126053C>G | |
| ENST00000692662.1:n.409-126053C>G | ||
| ENST00000693693.1:n.1117-126053C>G | ||
| ENST00000332995.12:c.251-126053C>G MANE Select | ENSP00000329880.8:n.251-126053C>G | |
| ENST00000379348.3:n.428-6321C>G | ||
| ENST00000406205.7:c.113-126053C>G | ENSP00000384760.3:n.113-126053C>G | |
| ENST00000674595.1:c.251-126053C>G | ENSP00000502157.1:n.251-126053C>G | |
| ENST00000674637.1:c.251-126053C>G | ENSP00000501634.1:n.251-126053C>G | |
| ENST00000676159.1:c.251-126053C>G | ENSP00000501921.1:n.251-126053C>G | |
| ENST00000332995.11:c.251-126053C>G | ENSP00000329880.8:n.251-126053C>G | |
| ENST00000379348.2:c.251-6321C>G | ENSP00000368653.2:n.251-6321C>G | |
| ENST00000379350.5:c.251-126053C>G | ENSP00000368655.1:n.251-126053C>G | |
| ENST00000406205.6:c.357-126053C>G | ||
| NM_001242648.1:c.251-126053C>G | NP_001229577.1:n.251-126053C>G | |
| NM_030948.2:c.251-126053C>G | NP_112210.1:n.251-126053C>G | |
| XM_005248933.1:c.251-126053C>G | XP_005248990.1:n.251-126053C>G | |
| XM_005248934.1:c.251-126053C>G | XP_005248991.1:n.251-126053C>G | |
| XM_005248935.3:c.251-126053C>G | XP_005248992.1:n.251-126053C>G | |
| XM_011514390.1:c.251-126053C>G | XP_011512692.1:n.251-126053C>G | |
| NM_001242648.2:c.251-126053C>G | NP_001229577.1:n.251-126053C>G | |
| NM_001322308.1:c.251-126053C>G | NP_001309237.1:n.251-126053C>G | |
| NM_001322309.1:c.251-126053C>G | NP_001309238.1:n.251-126053C>G | |
| NM_001322310.1:c.251-126053C>G | NP_001309239.1:n.251-126053C>G | |
| NM_030948.3:c.251-126053C>G | NP_112210.1:n.251-126053C>G | |
| XM_005248934.3:c.251-126053C>G | XP_005248991.1:n.251-126053C>G | |
| XM_017010454.2:c.251-126053C>G | XP_016865943.1:n.251-126053C>G | |
| XM_017010455.2:c.251-126053C>G | XP_016865944.1:n.251-126053C>G | |
| XM_017010456.2:c.251-126053C>G | XP_016865945.1:n.251-126053C>G | |
| XM_017010457.2:c.251-126053C>G | XP_016865946.1:n.251-126053C>G | |
| XM_017010459.2:c.251-126053C>G | XP_016865948.1:n.251-126053C>G | |
| XM_017010460.2:c.251-126053C>G | XP_016865949.1:n.251-126053C>G | |
| XM_017010461.2:c.251-126053C>G | XP_016865950.1:n.251-126053C>G | |
| XM_017010462.2:c.251-126053C>G | XP_016865951.1:n.251-126053C>G | |
| NM_001242648.3:c.251-126053C>G | NP_001229577.1:n.251-126053C>G | |
| NM_001322308.2:c.251-126053C>G | NP_001309237.1:n.251-126053C>G | |
| NM_001322309.2:c.251-126053C>G | NP_001309238.1:n.251-126053C>G | |
| NM_001374581.1:c.251-126053C>G | NP_001361510.1:n.251-126053C>G | |
| NM_001374582.1:c.251-126053C>G | NP_001361511.1:n.251-126053C>G | |
| NM_030948.5:c.251-126053C>G | NP_112210.1:n.251-126053C>G | |
| NM_001242648.4:c.251-126053C>G | NP_001229577.1:n.251-126053C>G | |
| NM_001322308.3:c.251-126053C>G | NP_001309237.1:n.251-126053C>G | |
| NM_001322309.3:c.251-126053C>G | NP_001309238.1:n.251-126053C>G | |
| NM_001322310.2:c.251-126053C>G | NP_001309239.1:n.251-126053C>G | |
| NM_001374581.2:c.251-126053C>G | NP_001361510.1:n.251-126053C>G | |
| NM_030948.6:c.251-126053C>G MANE Select | NP_112210.1:n.251-126053C>G |