Linked Data
dbSNP Id:
rs11487077
gnomAD v2:
7-102746078-A-C
gnomAD v3:
7-103105631-A-C
gnomAD v4:
7-103105631-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103105631A>C , CM000669.2:g.103105631A>C | GRCh38 |
| NC_000007.13:g.102746078A>C , CM000669.1:g.102746078A>C | GRCh37 |
| NC_000007.12:g.102533314A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465647.6:c.1057-2077T>G MANE Select | ENSP00000419188.1:n.1057-2077T>G | |
| ENST00000341533.8:c.1057-2077T>G | ENSP00000340093.4:n.1057-2077T>G | |
| ENST00000414118.2:n.282-2077T>G | ||
| ENST00000417955.5:c.1057-2077T>G | ENSP00000407112.1:n.1057-2077T>G | |
| ENST00000420631.5:c.306-2077T>G | ||
| ENST00000422589.5:c.1057-2077T>G | ENSP00000412376.1:n.1057-2077T>G | |
| ENST00000427257.5:c.1057-2077T>G | ENSP00000392775.1:n.1057-2077T>G | |
| ENST00000465647.5:c.1057-2077T>G | ENSP00000419188.1:n.1057-2077T>G | |
| NM_001122838.1:c.1057-2077T>G | NP_001116310.1:n.1057-2077T>G | |
| NM_198990.4:c.1057-2077T>G | NP_945341.3:n.1057-2077T>G | |
| XM_005250214.3:c.1057-2077T>G | XP_005250271.2:n.1057-2077T>G | |
| XM_005250215.1:c.1057-2077T>G | XP_005250272.1:n.1057-2077T>G | |
| XM_005250218.1:c.1057-2077T>G | XP_005250275.1:n.1057-2077T>G | |
| XM_011515933.1:c.1057-2077T>G | XP_011514235.1:n.1057-2077T>G | |
| XM_011515934.1:c.652-2077T>G | XP_011514236.1:n.652-2077T>G | |
| XM_005250214.5:c.1276-2077T>G | XP_005250271.3:n.1276-2077T>G | |
| XM_005250215.2:c.1057-2077T>G | XP_005250272.1:n.1057-2077T>G | |
| XM_005250218.3:c.1057-2077T>G | XP_005250275.1:n.1057-2077T>G | |
| XM_011515933.3:c.1276-2077T>G | XP_011514235.2:n.1276-2077T>G | |
| XM_017011854.2:c.1057-2077T>G | XP_016867343.1:n.1057-2077T>G | |
| XM_017011855.1:c.1057-2077T>G | XP_016867344.1:n.1057-2077T>G | |
| XM_024446688.1:c.652-2077T>G | XP_024302456.1:n.652-2077T>G | |
| NM_001122838.2:c.1057-2077T>G | NP_001116310.1:n.1057-2077T>G | |
| NM_198990.5:c.1057-2077T>G | NP_945341.3:n.1057-2077T>G | |
| NM_001122838.3:c.1057-2077T>G MANE Select | NP_001116310.1:n.1057-2077T>G | |
| NM_001386176.1:c.1057-2077T>G | NP_001373105.1:n.1057-2077T>G | |
| NM_001386177.1:c.1057-2077T>G | NP_001373106.1:n.1057-2077T>G | |
| NM_001386179.1:c.1057-2077T>G | NP_001373108.1:n.1057-2077T>G | |
| NM_001386182.1:c.1057-2077T>G | NP_001373111.1:n.1057-2077T>G | |
| NM_001386185.1:c.1057-2077T>G | NP_001373114.1:n.1057-2077T>G | |
| NM_001386190.1:c.1057-2077T>G | NP_001373119.1:n.1057-2077T>G | |
| NM_001386191.1:c.1057-2077T>G | NP_001373120.1:n.1057-2077T>G | |
| NM_001386193.1:c.1057-2077T>G | NP_001373122.1:n.1057-2077T>G | |
| NM_001386194.1:c.1057-2077T>G | NP_001373123.1:n.1057-2077T>G | |
| NM_001386204.1:c.1057-2077T>G | NP_001373133.1:n.1057-2077T>G | |
| NM_001386205.1:c.820-2077T>G | NP_001373134.1:n.820-2077T>G | |
| NM_001386207.1:c.820-2077T>G | NP_001373136.1:n.820-2077T>G | |
| NM_001386208.1:c.1057-2077T>G | NP_001373137.1:n.1057-2077T>G | |
| NM_001386209.1:c.1057-2077T>G | NP_001373138.1:n.1057-2077T>G | |
| NM_001386210.1:c.942-2077T>G | NP_001373139.1:n.942-2077T>G | |
| NM_001386211.1:c.820-2077T>G | NP_001373140.1:n.820-2077T>G | |
| NM_001386212.1:c.1057-2077T>G | NP_001373141.1:n.1057-2077T>G | |
| NM_001386213.1:c.1057-2077T>G | NP_001373142.1:n.1057-2077T>G | |
| NM_198990.6:c.1057-2077T>G | NP_945341.3:n.1057-2077T>G | |
| NR_169877.1:n.715-2077T>G | ||
| NR_169878.1:n.1562-2077T>G | ||
| NR_169879.1:n.2798-2077T>G | ||
| NR_169880.1:n.1117-2077T>G | ||
| NR_169881.1:n.355-2077T>G | ||
| NR_169882.1:n.672-2077T>G | ||
| NR_170069.1:n.1250-2077T>G | ||
| NR_170070.1:n.1557-2077T>G | ||
| NR_170071.1:n.809-2077T>G | ||
| NR_170072.1:n.1362-2077T>G | ||
| NR_170073.1:n.1524-2077T>G | ||
| NR_170074.1:n.1117-2077T>G | ||
| NR_170075.1:n.1362-2077T>G | ||
| NR_170076.1:n.1335-2077T>G | ||
| NR_170077.1:n.1417-2077T>G |