Linked Data
dbSNP Id:
rs2076380
gnomAD v2:
20-36793529-G-A
gnomAD v3:
20-38165127-G-A
gnomAD v4:
20-38165127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38165127G>A , CM000682.2:g.38165127G>A | GRCh38 |
| NC_000020.10:g.36793529G>A , CM000682.1:g.36793529G>A | GRCh37 |
| NC_000020.9:g.36226943G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361475.7:c.10+62C>T MANE Select | ENSP00000355330.2:n.10+62C>T | |
| ENST00000361475.6:c.10+62C>T | ENSP00000355330.2:n.10+62C>T | |
| ENST00000373403.7:c.10+62C>T | ENSP00000362502.3:n.10+62C>T | |
| ENST00000453095.1:c.10+62C>T | ENSP00000387642.1:n.10+62C>T | |
| ENST00000468262.5:n.94+62C>T | ||
| ENST00000474777.1:n.71+62C>T | ||
| NM_004613.2:c.10+62C>T | NP_004604.2:n.10+62C>T | |
| NM_198951.1:c.10+62C>T | NP_945189.1:n.10+62C>T | |
| XM_011529028.1:c.10+62C>T | XP_011527330.1:n.10+62C>T | |
| XM_011529029.1:c.10+62C>T | XP_011527331.1:n.10+62C>T | |
| NM_001323316.1:c.10+62C>T | NP_001310245.1:n.10+62C>T | |
| NM_001323317.1:c.10+62C>T | NP_001310246.1:n.10+62C>T | |
| NM_001323318.1:c.10+62C>T | NP_001310247.1:n.10+62C>T | |
| NM_004613.3:c.10+62C>T | NP_004604.2:n.10+62C>T | |
| NM_198951.2:c.10+62C>T | NP_945189.1:n.10+62C>T | |
| XR_001754586.1:n.52C>T | ||
| NM_004613.4:c.10+62C>T MANE Select | NP_004604.2:n.10+62C>T | |
| NM_001323316.2:c.10+62C>T | NP_001310245.1:n.10+62C>T | |
| NM_001323317.2:c.10+62C>T | NP_001310246.1:n.10+62C>T | |
| NM_001323318.2:c.10+62C>T | NP_001310247.1:n.10+62C>T | |
| NM_198951.3:c.10+62C>T | NP_945189.1:n.10+62C>T |