Linked Data
dbSNP Id:
rs764993449
ExAC:
2:215876345 G / C
gnomAD v2:
2-215876345-G-C
gnomAD v3:
2-215011621-G-C
gnomAD v4:
2-215011621-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011621G>C , CM000664.2:g.215011621G>C | GRCh38 |
| NC_000002.11:g.215876345G>C , CM000664.1:g.215876345G>C | GRCh37 |
| NC_000002.10:g.215584590G>C | NCBI36 |
| NG_007074.1:g.131807C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2150C>G MANE Select | ENSP00000272895.7:p.Thr717Arg | |
| ENST00000272895.11:c.2150C>G | ENSP00000272895.7:p.Thr717Arg | |
| ENST00000389661.4:c.1196C>G | ENSP00000374312.4:p.Thr399Arg | |
| NM_015657.3:c.1196C>G | NP_056472.2:p.Thr399Arg | |
| NM_173076.2:c.2150C>G | NP_775099.2:p.Thr717Arg | |
| NR_103740.1:n.2394C>G | ||
| XM_011510951.1:c.2150C>G | XP_011509253.1:p.Thr717Arg | |
| XM_011510952.1:c.2150C>G | XP_011509254.1:p.Thr717Arg | |
| XM_011510951.2:c.2150C>G | XP_011509253.1:p.Thr717Arg | |
| NM_173076.3:c.2150C>G MANE Select | NP_775099.2:p.Thr717Arg | |
| NR_103740.2:n.2592C>G | ||
| NM_015657.4:c.1196C>G | NP_056472.2:p.Thr399Arg |