Linked Data
dbSNP Id:
rs772132905
ExAC:
17:4858420 G / T
gnomAD v2:
17-4858420-G-T
gnomAD v4:
17-4955125-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955125G>T , CM000679.2:g.4955125G>T | GRCh38 |
| NC_000017.10:g.4858420G>T , CM000679.1:g.4858420G>T | GRCh37 |
| NC_000017.9:g.4799166G>T | NCBI36 |
| NG_012063.2:g.14035G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.495G>T MANE Select | ENSP00000430055.2:p.Met165Ile | |
| ENST00000323997.10:c.495G>T | ENSP00000324105.6:p.Met165Ile | |
| ENST00000518175.1:c.495G>T | ENSP00000431087.1:p.Met165Ile | |
| ENST00000519584.5:c.366G>T | ENSP00000430636.1:p.Met122Ile | |
| ENST00000519602.5:c.495G>T | ENSP00000430055.1:p.Met165Ile | |
| ENST00000520221.5:c.495G>T | ENSP00000467444.1:p.Met165Ile | |
| ENST00000521659.5:c.*441G>T | ENSP00000430554.1:n.*441G>T | |
| ENST00000522301.5:c.495G>T | ENSP00000465697.1:p.Met165Ile | |
| NM_001193503.1:c.366G>T | NP_001180432.1:p.Met122Ile | |
| NM_001976.4:c.495G>T | NP_001967.3:p.Met165Ile | |
| NM_053013.3:c.495G>T | NP_443739.3:p.Met165Ile | |
| XM_005256521.2:c.522G>T | XP_005256578.1:p.Met174Ile | |
| XM_011523729.1:c.495G>T | XP_011522031.1:p.Met165Ile | |
| XM_017024346.2:c.495G>T | XP_016879835.1:p.Met165Ile | |
| NM_001193503.2:c.366G>T | NP_001180432.1:p.Met122Ile | |
| NM_001374523.1:c.495G>T | NP_001361452.1:p.Met165Ile | |
| NM_001374524.1:c.522G>T | NP_001361453.1:p.Met174Ile | |
| NM_001976.5:c.495G>T | NP_001967.3:p.Met165Ile | |
| NM_053013.4:c.495G>T MANE Select | NP_443739.3:p.Met165Ile |