Linked Data
dbSNP Id:
rs1251388758
gnomAD v2:
16-56385742-C-T
gnomAD v3:
16-56351830-C-T
gnomAD v4:
16-56351830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351830C>T , CM000678.2:g.56351830C>T | GRCh38 |
| NC_000016.9:g.56385742C>T , CM000678.1:g.56385742C>T | GRCh37 |
| NC_000016.8:g.54943243C>T | NCBI36 |
| NG_042800.1:g.165492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.877+293C>T MANE Select | ENSP00000262493.6:n.877+293C>T | |
| ENST00000562316.6:c.544+293C>T | ENSP00000457238.2:n.544+293C>T | |
| ENST00000564727.2:c.181+293C>T | ENSP00000454971.2:n.181+293C>T | |
| ENST00000568375.2:c.116-3036C>T | ||
| ENST00000638185.1:n.1092+293C>T | ||
| ENST00000638210.1:n.1177+293C>T | ||
| ENST00000638705.1:c.877+293C>T | ENSP00000491223.1:n.877+293C>T | |
| ENST00000638836.1:n.787+293C>T | ||
| ENST00000639055.1:n.1598+293C>T | ||
| ENST00000639251.1:n.778+293C>T | ||
| ENST00000639268.1:c.512+293C>T | ||
| ENST00000639341.1:c.402+293C>T | ||
| ENST00000639770.1:c.915+293C>T | ENSP00000491999.1:n.915+293C>T | |
| ENST00000640390.1:n.807+293C>T | ||
| ENST00000640469.1:c.241+293C>T | ENSP00000491875.1:n.241+293C>T | |
| ENST00000640560.1:n.653+293C>T | ||
| ENST00000640893.1:c.*275+293C>T | ENSP00000492677.1:n.*275+293C>T | |
| ENST00000262493.10:c.877+293C>T | ENSP00000262493.6:n.877+293C>T | |
| ENST00000564727.1:c.97+293C>T | ENSP00000454971.1:n.97+293C>T | |
| ENST00000568375.1:n.116-3036C>T | ||
| NM_020988.2:c.877+293C>T | NP_066268.1:n.877+293C>T | |
| XM_011523003.1:c.751+293C>T | XP_011521305.1:n.751+293C>T | |
| XM_011523003.3:c.751+293C>T | XP_011521305.1:n.751+293C>T | |
| NM_020988.3:c.877+293C>T MANE Select | NP_066268.1:n.877+293C>T |