Linked Data
dbSNP Id:
rs6455128
gnomAD v2:
6-62697746-A-C
gnomAD v3:
6-61987841-A-C
gnomAD v4:
6-61987841-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.61987841A>C , CM000668.2:g.61987841A>C | GRCh38 |
| NC_000006.11:g.62697746A>C , CM000668.1:g.62697746A>C | GRCh37 |
| NC_000006.10:g.62755705A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281156.5:c.337-9629T>G MANE Select | ENSP00000281156.3:n.337-9629T>G | |
| ENST00000675091.1:c.337-9629T>G | ENSP00000502245.1:n.337-9629T>G | |
| ENST00000281156.4:c.337-9629T>G | ENSP00000281156.3:n.337-9629T>G | |
| NM_152688.2:c.337-9629T>G | NP_689901.2:n.337-9629T>G | |
| XM_006715354.1:c.337-9629T>G | XP_006715417.1:n.337-9629T>G | |
| XM_011535515.1:c.337-9629T>G | XP_011533817.1:n.337-9629T>G | |
| XM_011535516.1:c.337-9629T>G | XP_011533818.1:n.337-9629T>G | |
| XM_011535517.1:c.337-9629T>G | XP_011533819.1:n.337-9629T>G | |
| XM_011535518.1:c.337-9629T>G | XP_011533820.1:n.337-9629T>G | |
| XM_011535519.1:c.337-9629T>G | XP_011533821.1:n.337-9629T>G | |
| XM_011535520.1:c.337-9629T>G | XP_011533822.1:n.337-9629T>G | |
| XR_427965.2:n.579-9629T>G | ||
| XR_942323.1:n.579-9629T>G | ||
| NM_001350622.1:c.337-9629T>G | NP_001337551.1:n.337-9629T>G | |
| NM_152688.3:c.337-9629T>G | NP_689901.2:n.337-9629T>G | |
| NR_146870.1:n.616-9629T>G | ||
| NR_146871.1:n.616-9629T>G | ||
| NR_146872.1:n.616-9629T>G | ||
| NR_146873.1:n.616-9629T>G | ||
| NR_146874.1:n.616-9629T>G | ||
| XM_011535515.2:c.337-9629T>G | XP_011533817.1:n.337-9629T>G | |
| XM_017010334.1:c.337-9629T>G | XP_016865823.1:n.337-9629T>G | |
| XM_017010335.1:c.337-9629T>G | XP_016865824.1:n.337-9629T>G | |
| XM_017010336.1:c.337-9629T>G | XP_016865825.1:n.337-9629T>G | |
| XM_017010338.1:c.336+60037T>G | XP_016865827.1:n.336+60037T>G | |
| XM_017010339.1:c.337-9629T>G | XP_016865828.1:n.337-9629T>G | |
| XM_017010340.1:c.337-9629T>G | XP_016865829.1:n.337-9629T>G | |
| XM_017010341.1:c.337-9629T>G | XP_016865830.1:n.337-9629T>G | |
| XM_017010342.1:c.337-9629T>G | XP_016865831.1:n.337-9629T>G | |
| XM_017010343.1:c.337-9629T>G | XP_016865832.1:n.337-9629T>G | |
| XM_017010344.1:c.336+60037T>G | XP_016865833.1:n.336+60037T>G | |
| XM_017010345.1:c.337-9629T>G | XP_016865834.1:n.337-9629T>G | |
| XM_017010347.1:c.43-9629T>G | XP_016865836.1:n.43-9629T>G | |
| XR_001743199.1:n.579-9629T>G | ||
| XR_001743200.1:n.579-9629T>G | ||
| XR_001743201.1:n.579-9629T>G | ||
| XR_001743202.1:n.579-9629T>G | ||
| XR_001743204.1:n.579-9629T>G | ||
| XR_001743205.1:n.579-9629T>G | ||
| XR_001743206.1:n.579-9629T>G | ||
| XR_001743212.1:n.578+60037T>G | ||
| NM_152688.4:c.337-9629T>G MANE Select | NP_689901.2:n.337-9629T>G | |
| NR_146871.2:n.614-9629T>G | ||
| NR_146873.2:n.614-9629T>G | ||
| NR_146874.2:n.614-9629T>G | ||
| NM_001350622.2:c.337-9629T>G | NP_001337551.1:n.337-9629T>G | |
| NR_146870.2:n.614-9629T>G | ||
| NR_146871.3:n.614-9629T>G | ||
| NR_146872.2:n.614-9629T>G | ||
| NR_146873.3:n.614-9629T>G | ||
| NR_146874.3:n.614-9629T>G |