Linked Data
dbSNP Id:
rs746214044
ExAC:
2:234255451 A / T
gnomAD v2:
2-234255451-A-T
gnomAD v4:
2-233346805-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233346805A>T , CM000664.2:g.233346805A>T | GRCh38 |
| NC_000002.11:g.234255451A>T , CM000664.1:g.234255451A>T | GRCh37 |
| NC_000002.10:g.233920190A>T | NCBI36 |
| NG_009116.1:g.44143A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409110.6:c.1113-2A>T MANE Select | ENSP00000386444.1:n.1113-2A>T | |
| ENST00000409110.5:c.1113-2A>T | ENSP00000386444.1:n.1113-2A>T | |
| ENST00000412969.6:n.2333-2A>T | ||
| ENST00000471884.5:n.3144-2A>T | ||
| ENST00000474220.5:n.319-2A>T | ||
| ENST00000476500.5:n.6412-2A>T | ||
| ENST00000492629.1:n.74-2A>T | ||
| NM_000541.4:c.1113-2A>T | NP_000532.2:n.1113-2A>T | |
| XM_011511589.1:c.1113-2A>T | XP_011509891.1:n.1113-2A>T | |
| XM_011511590.1:c.1113-2A>T | XP_011509892.1:n.1113-2A>T | |
| XM_011511591.1:c.1103-2A>T | XP_011509893.1:n.1103-2A>T | |
| XM_011511592.1:c.957-2A>T | XP_011509894.1:n.957-2A>T | |
| XM_011511593.1:c.813-2A>T | XP_011509895.1:n.813-2A>T | |
| XM_011511594.1:c.741-2A>T | XP_011509896.1:n.741-2A>T | |
| XM_011511596.1:c.711-2A>T | XP_011509898.1:n.711-2A>T | |
| XM_011511597.1:c.711-2A>T | XP_011509899.1:n.711-2A>T | |
| XR_922978.1:n.1430-2A>T | ||
| XR_922979.1:n.1434-2A>T | ||
| XR_922980.1:n.1529-2A>T | ||
| XM_011511593.3:c.813-2A>T | XP_011509895.1:n.813-2A>T | |
| XM_017004641.1:c.1103-2A>T | XP_016860130.1:n.1103-2A>T | |
| XM_024453036.1:c.701-2A>T | XP_024308804.1:n.701-2A>T | |
| XR_001738882.1:n.1311-2A>T | ||
| XR_922980.2:n.1529-2A>T | ||
| NM_000541.5:c.1113-2A>T MANE Select | NP_000532.2:n.1113-2A>T |